Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Titel:
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Auteur:
Niceta, Marcello Stellacci, Emilia Gripp, Karen W. Zampino, Giuseppe Kousi, Maria Anselmi, Massimiliano Traversa, Alice Ciolfi, Andrea Stabley, Deborah Bruselles, Alessandro Caputo, Viviana Cecchetti, Serena Prudente, Sabrina Fiorenza, Maria T. Boitani, Carla Philip, Nicole Niyazov, Dmitriy Leoni, Chiara Nakane, Takaya Keppler-Noreuil, Kim Braddock, Stephen R. Gillessen-Kaesbach, Gabriele Palleschi, Antonio Campeau, Philippe M. Lee, Brendan H.L. Pouponnot, Celio Stella, Lorenzo Bocchinfuso, Gianfranco Katsanis, Nicholas Sol-Church, Katia Tartaglia, Marco